Improving Identification of Patients Meeting Lynch Syndrome Testing Criteria in Endoscopy

Introduction: Lynch syndrome (LS) is the most common hereditary cause of colorectal cancer (CRC). In some estimates, 1 in 300 people have LS, but most remain unaware of their diagnosis and are typically only diagnosed after they develop cancer. ACG guidelines recommend assessment of family history for all patients and referral for genetic testing when indicated. However, the fast-paced nature of clinic visits and high turnover rate of endoscopy units pose significant barriers to this assessment. Methods: We developed a one-page, six-question survey designed to evaluate risk for LS based upon the National Comprehensive Cancer Network (NCCN)-2020 criteria for LS genetic testing. This survey was administered to patients in the waiting room prior to routine outpatient endoscopy at a tertiary GI referral practice over a four-month period from January through April 2021, and was completed on a voluntary basis. Based on the answers to the questions, patients were identified as either meeting or not meeting NCCN-2020 criteria for genetic testing for LS. Results: A total of 1029 patients completed the survey, and 227 patients (22.1%) screened positive for one of the NCCN LS genetic testing criteria. Additionally, 69 of 227 (6.7% of all patients) met more than one LS testing criteria. Chart review was performed for all patients who screened positive. Of these positive screens, 83 patients had previously been referred for genetic counseling, 16 were known to have LS, and 16 were known to have another genetic cancer predisposition syndrome (e.g. BRCA1, BRCA2). Conversely, 144 patients (63.4% of positive screens) had no prior genetic counseling and were therefore eligible for a referral for genetic counseling and testing. Finally, 85% of patients found the questionnaire to be easy or somewhat easy to answer. Conclusion: This brief self-administered six-question survey identified 22% of the patients presenting for routine outpatient endoscopy as meeting NCCN criteria for genetic testing for LS. Interestingly, the majority (63%) of these patients had no prior referral for genetic testing. These data suggest that screening of individuals in the endoscopy waiting room is feasible and acceptable to patients, with no disruption to the busy workflow. It is critical for gastroenterologists to incorporate such innovative workflow to identify these high-risk individuals and to refer them for genetic testing, thereby aiding in CRC prevention for them and for their family members.Table 1.: Summary of responses to LS screening questionnaire.